Mutagenetix > Incidental Mutation

Incidental Mutation 'R1016:Plekha6'

96255

Institutional Source

Beutler Lab

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

MMRRC Submission

039120-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133091948-133231173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133187832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 118 (N118D)

Ref Sequence

ENSEMBL: ENSMUSP00000148746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285] [ENSMUST00000212252]

AlphaFold

Q7TQG1

Predicted Effect

probably benign
Transcript: ENSMUST00000038295
AA Change: N14D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: N14D

Domain	Start	End	E-Value	Type
PH	60	160	2.23e-20	SMART
low complexity region	217	231	N/A	INTRINSIC
low complexity region	353	367	N/A	INTRINSIC
Blast:PH	506	576	6e-31	BLAST
coiled coil region	613	686	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC
low complexity region	789	808	N/A	INTRINSIC
low complexity region	812	827	N/A	INTRINSIC
low complexity region	1139	1153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105082
AA Change: N14D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: N14D

Domain	Start	End	E-Value	Type
PH	60	180	1.24e-18	SMART
low complexity region	237	251	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC
coiled coil region	559	632	N/A	INTRINSIC
low complexity region	707	728	N/A	INTRINSIC
low complexity region	1035	1049	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186799

Predicted Effect

probably benign
Transcript: ENSMUST00000186917
AA Change: N14D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: N14D

Domain	Start	End	E-Value	Type
PH	60	180	1.24e-18	SMART
low complexity region	237	251	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC
coiled coil region	559	632	N/A	INTRINSIC
low complexity region	707	728	N/A	INTRINSIC
low complexity region	1035	1049	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187285
AA Change: N14D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: N14D

Domain	Start	End	E-Value	Type
PH	60	160	9.6e-23	SMART
low complexity region	217	231	N/A	INTRINSIC
low complexity region	353	367	N/A	INTRINSIC
coiled coil region	539	612	N/A	INTRINSIC
low complexity region	687	708	N/A	INTRINSIC
low complexity region	1014	1028	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189590

Predicted Effect

probably benign
Transcript: ENSMUST00000212252
AA Change: N118D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191207

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ceacam20	T	A	7: 19,710,227 (GRCm39)	H6Q	probably null	Het
Clstn1	T	C	4: 149,731,286 (GRCm39)	I866T	probably benign	Het
Cntnap1	T	C	11: 101,068,333 (GRCm39)	V86A	probably damaging	Het
Crtc1	A	T	8: 70,844,769 (GRCm39)	Y351*	probably null	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cyp2j12	C	T	4: 96,001,102 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,652,938 (GRCm39)	K183N	probably damaging	Het
Fancl	G	T	11: 26,337,195 (GRCm39)		probably benign	Het
Fbxo40	G	A	16: 36,789,539 (GRCm39)	Q524*	probably null	Het
Flcn	T	C	11: 59,686,691 (GRCm39)		probably null	Het
Gm19965	T	A	1: 116,749,031 (GRCm39)	C237*	probably null	Het
Hpf1	A	G	8: 61,348,678 (GRCm39)	Y131C	possibly damaging	Het
Mdh1	A	G	11: 21,509,769 (GRCm39)	L202P	probably benign	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mtus1	A	G	8: 41,503,063 (GRCm39)	V784A	probably benign	Het
Myg1	T	C	15: 102,242,786 (GRCm39)	I159T	possibly damaging	Het
Nans	T	C	4: 46,500,716 (GRCm39)	Y203H	probably benign	Het
Ncapg2	G	A	12: 116,402,295 (GRCm39)	C709Y	probably damaging	Het
Or8b36	T	C	9: 37,937,987 (GRCm39)	V295A	probably damaging	Het
Parp12	T	C	6: 39,088,660 (GRCm39)	Y192C	probably damaging	Het
Prg4	T	C	1: 150,330,442 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,135 (GRCm39)	T454A	possibly damaging	Het
Ptprz1	T	C	6: 23,000,973 (GRCm39)	L1021P	probably damaging	Het
Pvr	T	C	7: 19,643,142 (GRCm39)	I364V	probably benign	Het
Serpina5	A	G	12: 104,071,582 (GRCm39)	I396M	probably damaging	Het
Sgcb	A	C	5: 73,797,183 (GRCm39)	H192Q	probably benign	Het
Slc4a9	C	A	18: 36,664,478 (GRCm39)	H379N	probably benign	Het
Tet1	T	C	10: 62,715,729 (GRCm39)	D22G	probably benign	Het
Trim34a	T	C	7: 103,897,167 (GRCm39)	V77A	probably benign	Het
Ttc7b	T	C	12: 100,369,617 (GRCm39)	E384G	probably null	Het
Vmn2r16	G	A	5: 109,487,754 (GRCm39)	G209D	probably damaging	Het

Other mutations in Plekha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Plekha6	APN	1	133,209,903 (GRCm39)	missense	possibly damaging	0.92
IGL01328:Plekha6	APN	1	133,200,074 (GRCm39)	splice site	probably null
IGL01739:Plekha6	APN	1	133,187,869 (GRCm39)	missense	probably benign	0.38
IGL01803:Plekha6	APN	1	133,200,152 (GRCm39)	nonsense	probably null
IGL02053:Plekha6	APN	1	133,200,230 (GRCm39)	missense	probably damaging	1.00
IGL02269:Plekha6	APN	1	133,215,587 (GRCm39)	missense	possibly damaging	0.82
IGL02276:Plekha6	APN	1	133,221,599 (GRCm39)	missense	possibly damaging	0.93
IGL02478:Plekha6	APN	1	133,211,031 (GRCm39)	missense	probably benign	0.03
IGL02754:Plekha6	APN	1	133,212,676 (GRCm39)	missense	probably damaging	0.98
G1Funyon:Plekha6	UTSW	1	133,192,425 (GRCm39)	missense	probably damaging	0.96
R0100:Plekha6	UTSW	1	133,197,915 (GRCm39)	missense	probably damaging	0.99
R0334:Plekha6	UTSW	1	133,209,918 (GRCm39)	missense	probably benign	0.24
R0470:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	probably benign	0.07
R1254:Plekha6	UTSW	1	133,200,327 (GRCm39)	missense	probably benign	0.10
R1728:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1729:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1730:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1739:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1762:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1771:Plekha6	UTSW	1	133,201,651 (GRCm39)	missense	probably benign	0.00
R1783:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1784:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1785:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1786:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R1997:Plekha6	UTSW	1	133,191,556 (GRCm39)	missense	probably benign	0.43
R2020:Plekha6	UTSW	1	133,212,708 (GRCm39)	missense	possibly damaging	0.55
R2130:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2131:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2133:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2992:Plekha6	UTSW	1	133,222,396 (GRCm39)	missense	probably damaging	1.00
R3781:Plekha6	UTSW	1	133,222,393 (GRCm39)	missense	probably damaging	1.00
R3810:Plekha6	UTSW	1	133,201,717 (GRCm39)	missense	probably benign
R4067:Plekha6	UTSW	1	133,222,416 (GRCm39)	missense	probably benign	0.40
R4725:Plekha6	UTSW	1	133,211,058 (GRCm39)	missense	probably damaging	1.00
R5657:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5658:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5746:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5768:Plekha6	UTSW	1	133,208,116 (GRCm39)	missense	probably benign	0.01
R5785:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5892:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5937:Plekha6	UTSW	1	133,187,839 (GRCm39)	missense	possibly damaging	0.89
R5985:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5986:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6053:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6072:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6167:Plekha6	UTSW	1	133,207,145 (GRCm39)	missense	probably null	0.96
R6843:Plekha6	UTSW	1	133,202,616 (GRCm39)	missense	probably damaging	1.00
R6879:Plekha6	UTSW	1	133,187,793 (GRCm39)	missense	possibly damaging	0.95
R6912:Plekha6	UTSW	1	133,200,273 (GRCm39)	missense	probably benign	0.02
R6970:Plekha6	UTSW	1	133,191,556 (GRCm39)	missense	probably benign	0.43
R7041:Plekha6	UTSW	1	133,200,198 (GRCm39)	missense	possibly damaging	0.93
R7248:Plekha6	UTSW	1	133,203,586 (GRCm39)	nonsense	probably null
R7400:Plekha6	UTSW	1	133,201,762 (GRCm39)	nonsense	probably null
R7720:Plekha6	UTSW	1	133,221,445 (GRCm39)	missense	probably damaging	1.00
R7772:Plekha6	UTSW	1	133,097,760 (GRCm39)	missense	possibly damaging	0.57
R8011:Plekha6	UTSW	1	133,191,544 (GRCm39)	missense	probably benign
R8301:Plekha6	UTSW	1	133,192,425 (GRCm39)	missense	probably damaging	0.96
R8387:Plekha6	UTSW	1	133,219,893 (GRCm39)	splice site	probably null
R8465:Plekha6	UTSW	1	133,197,778 (GRCm39)	missense	probably damaging	0.98
R8501:Plekha6	UTSW	1	133,215,575 (GRCm39)	missense	probably benign	0.34
R9025:Plekha6	UTSW	1	133,212,999 (GRCm39)	missense	probably benign	0.01
R9044:Plekha6	UTSW	1	133,201,688 (GRCm39)	missense	possibly damaging	0.95
R9044:Plekha6	UTSW	1	133,201,687 (GRCm39)	missense	probably benign	0.01
R9165:Plekha6	UTSW	1	133,200,375 (GRCm39)	missense	probably damaging	1.00
R9179:Plekha6	UTSW	1	133,214,085 (GRCm39)	missense	possibly damaging	0.90
R9186:Plekha6	UTSW	1	133,220,171 (GRCm39)	missense	probably damaging	1.00
R9188:Plekha6	UTSW	1	133,220,171 (GRCm39)	missense	probably damaging	1.00
R9321:Plekha6	UTSW	1	133,209,549 (GRCm39)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,200,209 (GRCm39)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,191,551 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCACCCTCTGGGATCAAATACATAGC -3'
(R):5'- AGCAAGGGTTTTCCCCGCAGAT -3'

Sequencing Primer
(F):5'- ttggtaaacagaggcaggag -3'
(R):5'- AGATCCTGACATCCTCTAAACTG -3'

Posted On

2014-01-05